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本文引用的文献

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Imprint of assortative mating on the human genome.人类基因组中同型交配的印记。
Nat Hum Behav. 2018 Dec;2(12):948-954. doi: 10.1038/s41562-018-0476-3. Epub 2018 Nov 26.
2
Meta-analysis of genome-wide association studies for height and body mass index in ∼700000 individuals of European ancestry.全基因组关联研究荟萃分析:约 70 万欧洲血统个体的身高和体重指数。
Hum Mol Genet. 2018 Oct 15;27(20):3641-3649. doi: 10.1093/hmg/ddy271.
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A population genetic interpretation of GWAS findings for human quantitative traits.人群遗传对人类数量性状 GWAS 研究结果的解释。
PLoS Biol. 2018 Mar 16;16(3):e2002985. doi: 10.1371/journal.pbio.2002985. eCollection 2018 Mar.
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Linkage disequilibrium-dependent architecture of human complex traits shows action of negative selection.人类复杂性状的连锁不平衡依赖结构显示出负选择的作用。
Nat Genet. 2017 Oct;49(10):1421-1427. doi: 10.1038/ng.3954. Epub 2017 Sep 11.
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10 Years of GWAS Discovery: Biology, Function, and Translation.全基因组关联研究十年发现:生物学、功能与转化
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Exploring Boundaries for the Genetic Consequences of Assortative Mating for Psychiatric Traits.探索精神特质的近亲交配的遗传后果的边界。
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Patterns of Nonrandom Mating Within and Across 11 Major Psychiatric Disorders.11种主要精神疾病内部及之间的非随机交配模式。
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Genetic determination of height-mediated mate choice.身高介导的配偶选择的遗传决定因素。
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9
Genetic interactions contribute less than additive effects to quantitative trait variation in yeast.在酵母中,基因相互作用对数量性状变异的贡献小于加性效应。
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10
Contrasting genetic architectures of schizophrenia and other complex diseases using fast variance-components analysis.使用快速方差成分分析对比精神分裂症和其他复杂疾病的遗传结构。
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从 R.A. 费希尔 1918 年的论文到一个世纪后的 GWAS。

From R.A. Fisher's 1918 Paper to GWAS a Century Later.

机构信息

Institute for Molecular Bioscience, University of Queensland, Brisbane, Queensland, Australia 4072.

Queensland Brain Institute, University of Queensland, Brisbane, Queensland, Australia 4072.

出版信息

Genetics. 2019 Apr;211(4):1125-1130. doi: 10.1534/genetics.118.301594.

DOI:10.1534/genetics.118.301594
PMID:30967441
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC6456325/
Abstract

The genetics and evolution of complex traits, including quantitative traits and disease, have been hotly debated ever since Darwin. A century ago, a paper from R.A. Fisher reconciled Mendelian and biometrical genetics in a landmark contribution that is now accepted as the main foundation stone of the field of quantitative genetics. Here, we give our perspective on Fisher's 1918 paper in the context of how and why it is relevant in today's genome era. We mostly focus on human trait variation, in part because Fisher did so too, but the conclusions are general and extend to other natural populations, and to populations undergoing artificial selection.

摘要

复杂性状(包括数量性状和疾病)的遗传学和进化自达尔文以来一直备受争议。一个世纪前,R.A. 费希尔的一篇论文调和了孟德尔遗传学和生物统计学遗传学,这一里程碑式的贡献现在被认为是数量遗传学领域的主要基石。在这里,我们根据它在当今基因组时代的相关性和原因,从我们的角度来讨论费希尔 1918 年的论文。我们主要关注人类特征变异,部分原因是费希尔也是如此,但结论是普遍的,适用于其他自然种群和正在经历人工选择的种群。